MCID: PSD012
MIFTS: 51

Pseudoachondroplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Pseudoachondroplasia

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pseudoachondroplasia:

Name: Pseudoachondroplasia 51 11 23 47 24 25 53 69 12 13 67
Pseudoachondroplastic Dysplasia 11 47 24 25 53 69
Psach 23 47 24 25 69 49
Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome 47 25
 
Spondyloepiphyseal Dysplasia, Pseudoachondroplastic 11 47
Pseudoachondroplastic Spondyloepiphyseal Dysplasia 47 53
Spondyloepiphyseal Dysplasia Pseudoachondroplastic 69 26

Characteristics:

Orphanet epidemiological data:

53
pseudoachondroplasia:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
pseudoachondroplasia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%...


Classifications:



External Ids:

OMIM51 177170
Disease Ontology11 DOID:0080047
Orphanet53 ORPHA750
MESH via Orphanet39 C535819
UMLS via Orphanet68 C0410538
ICD10 via Orphanet30 Q77.8
MedGen36 C0410538
MeSH38 D010009

Summaries for Pseudoachondroplasia

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NIH Rare Diseases:47 Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern. Last updated: 1/19/2011

MalaCards based summary: Pseudoachondroplasia, also known as pseudoachondroplastic dysplasia, is related to pseudoachondroplastic dysplasia 2 and multiple epiphyseal dysplasia, and has symptoms including abnormality of the metaphyses, brachydactyly syndrome and abnormality of the metacarpal bones. An important gene associated with Pseudoachondroplasia is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways are Gastric cancer network 2 and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:11 An osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism.

Genetics Home Reference:25 Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.

OMIM:51 Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature,... (177170) more...

UniProtKB/Swiss-Prot:69 Pseudoachondroplasia: A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease.

Wikipedia:70 Pseudoachondroplasia is a type of short-limb dwarfism. It is a genetic autosomal dominant disorder. It... more...

GeneReviews for NBK1487

Related Diseases for Pseudoachondroplasia

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Diseases related to Pseudoachondroplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1pseudoachondroplastic dysplasia 210.8
2multiple epiphyseal dysplasia10.4
3osteopathia striata with pigmentary dermopathy including white forelock10.3COMP, MATN3
4neuropathy, distal hereditary motor, type iia10.3COMP, SLC26A2
5cerebral hemorrhage10.2ACAN, COMP
6stickler syndrome10.2COL9A2, SLC26A2
7atelosteogenesis ii10.2COMP, SLC26A2
8smed strudwick type10.2ACAN, COMP
9leber congenital amaurosis 310.2ACAN, SLC26A2
10acromesomelic dysplasia10.1ACAN, COMP
11sweat gland cancer10.1ACAN, COMP
12skeletal dysplasias10.1
13skeletal dysplasia10.1
14spondyloepimetaphyseal dysplasia10.0ACAN, MATN3
15vulvovaginal candidiasis10.0COMP, SLC26A2
16atrioventricular septal defect10.0COL9A2, COMP, SLC26A2
17intervertebral disc disease10.0COL9A2, COL9A3
18malignant giant cell tumor10.0ACAN, COMP
19extraskeletal chondroma10.0ACAN, COMP
20achondroplasia9.9
21diastrophic dysplasia9.9
22cervicitis9.9
23dwarfism9.9
24epiphyseal dysplasia, multiple, 49.8DCN, SLC26A2
25pauciarticular onset juvenile idiopathic arthritis9.8ACAN, DCN
26alopecia areata9.7COL9A1, DCN
27bone structure disease9.7ACAN, COL9A2, COL9A3
28xanthomatosis9.7ACAN, COMP
29asthma9.7
30tendinopathy9.7
31osteogenesis imperfecta9.7
32cerebritis9.7
33myopathy9.7
34chromosomal disease9.7ACAN, COL9A2, COL9A3
35ischemic bone disease9.7COL9A2, COMP, MATN3, SLC26A2
36isolated congenital nasal pyriform aperture stenosis9.7COL9A1, COL9A2, COL9A3
37isotretinoin syndrome9.6COL9A1, COL9A2, COL9A3
38fibrochondrogenesis9.6COMP, DCN, SLC26A2
39osteochondrosis9.4ACAN, COL9A1, COMP, MATN3
40spondylolisthesis9.2ACAN, COL9A1, COL9A2, COL9A3
41myasthenia, limb-girdle, with tubular aggregates9.0COL9A1, COL9A2, COL9A3, COMP, MATN3
42pars planitis8.7COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
43osteonecrosis8.6ACAN, COL9A1, COL9A2, COL9A3, COMP, MATN3
44immunodeficiency 307.5ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Graphical network of the top 20 diseases related to Pseudoachondroplasia:



Diseases related to pseudoachondroplasia

Symptoms for Pseudoachondroplasia

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Symptoms by clinical synopsis from OMIM:

177170

Clinical features from OMIM:

177170

Human phenotypes related to Pseudoachondroplasia:

 63 53 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the metaphyses63 53 hallmark (90%) Very frequent (99-80%) HP:0000944
2 brachydactyly syndrome63 hallmark (90%) HP:0001156
3 abnormality of the metacarpal bones63 hallmark (90%) HP:0001163
4 delayed skeletal maturation63 53 hallmark (90%) Very frequent (99-80%) HP:0002750
5 micromelia63 53 hallmark (90%) Very frequent (99-80%) HP:0002983
6 abnormality of the hip bone63 53 hallmark (90%) Very frequent (99-80%) HP:0003272
7 platyspondyly63 53 typical (50%) Frequent (79-30%) HP:0000926
8 gait disturbance63 53 typical (50%) Frequent (79-30%) HP:0001288
9 limitation of joint mobility63 typical (50%) HP:0001376
10 joint hypermobility63 typical (50%) HP:0001382
11 short toe63 typical (50%) HP:0001831
12 scoliosis63 53 typical (50%) Frequent (79-30%) HP:0002650
13 osteoarthritis63 53 typical (50%) Frequent (79-30%) HP:0002758
14 arthralgia63 53 typical (50%) Frequent (79-30%) HP:0002829
15 hyperlordosis63 53 typical (50%) Frequent (79-30%) HP:0003307
16 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
17 genu valgum63 53 occasional (7.5%) Occasional (29-5%) HP:0002857
18 genu varum63 53 occasional (7.5%) Occasional (29-5%) HP:0002970
19 hypoplasia of the odontoid process63 53 occasional (7.5%) Occasional (29-5%) HP:0003311
20 sensory neuropathy63 HP:0000763
21 limited elbow extension63 HP:0001377
22 degenerative joint disease63 53 Frequent (79-30%) HP:0001379
23 ligamentous laxity63 HP:0001380
24 joint laxity63 HP:0001388
25 carpal bone hypoplasia63 HP:0001498
26 cervical cord compression63 HP:0002341
27 waddling gait63 HP:0002515
28 delayed epiphyseal ossification63 HP:0002663
29 genu recurvatum63 HP:0002816
30 flared femoral metaphysis63 HP:0002834
31 lumbar hyperlordosis63 HP:0002938
32 short long bone63 HP:0003026
33 ulnar deviation of the wrist63 HP:0003049
34 limited hip extension63 HP:0003093
35 atlantoaxial dislocation63 HP:0003414
36 radial metaphyseal irregularity63 HP:0004019
37 ulnar metaphyseal irregularity63 HP:0004042
38 irregular carpal bones63 53 Very frequent (99-80%) HP:0004236
39 beaking of vertebral bodies63 HP:0004568
40 fragmented, irregular epiphyses63 HP:0005063
41 disproportionate short-limb short stature63 53 Very frequent (99-80%) HP:0008873
42 ulnar deviation of the hand63 HP:0009487
43 short distal phalanx of finger63 HP:0009882
44 short metacarpal63 53 Very frequent (99-80%) HP:0010049
45 small epiphyses of the phalanges of the hand63 HP:0010236
46 irregular epiphyses63 HP:0010582
47 childhood onset short-limb short stature63 HP:0011405
48 spatulate ribs63 HP:0012307
49 fragmented epiphyses63 HP:0100168
50 short foot53 Frequent (79-30%)
51 short palm53 Very frequent (99-80%)
52 hamartomatous polyposis53 Frequent (79-30%)
53 joint hyperflexibility53 Frequent (79-30%)
54 abnormality of epiphysis morphology53 Very frequent (99-80%)
55 bowing of the long bones53 Very frequent (99-80%)
56 intestinal polyposis53 Frequent (79-30%)

UMLS symptoms related to Pseudoachondroplasia:


joint laxity, ulnar deviation of the wrist, waddling gait

Drugs & Therapeutics for Pseudoachondroplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Pseudoachondroplasia

Genetic Tests for Pseudoachondroplasia

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Genetic tests related to Pseudoachondroplasia:

id Genetic test Affiliating Genes
1 Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome26
2 Pseudoachondroplasia24 COMP

Anatomical Context for Pseudoachondroplasia

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MalaCards organs/tissues related to Pseudoachondroplasia:

35
Bone

Animal Models for Pseudoachondroplasia or affiliated genes

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MGI Mouse Phenotypes related to Pseudoachondroplasia:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9COL9A1, COL9A2, COMP, MATN3, SLC26A2
2MP:00053907.7COL9A1, COL9A2, COMP, DCN, MATN3, SLC26A2

Publications for Pseudoachondroplasia

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Articles related to Pseudoachondroplasia:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation. (28044000)
2017
2
A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia. (27330822)
2016
3
Antioxidant and anti-inflammatory agents mitigate pathology in a mouse model of pseudoachondroplasia. (25859006)
2015
4
Pseudoachondroplasia/COMP - translating from the bench to the bedside. (24892720)
2014
5
Abnormal chondrocyte apoptosis in the cartilage growth plate is influenced by genetic background and deletion of CHOP in a targeted mouse model of pseudoachondroplasia. (24558358)
2014
6
Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia. (24194321)
2013
7
A novel COMP mutation in a Chinese patient with pseudoachondroplasia. (23562786)
2013
8
A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia. (22006726)
2012
9
Chop (Ddit3) is essential for D469del-COMP retention and cell death in chondrocytes in an inducible transgenic mouse model of pseudoachondroplasia. (22154935)
2012
10
Pseudoachondroplasia and the seven Ovitz siblings who survived Auschwitz. (22426567)
2012
11
A novel COMP mutation in a pseudoachondroplasia family of Chinese origin. (21599986)
2011
12
Difficult to control asthma in the patient with pseudoachondroplasia. (22675014)
2011
13
Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia. (20819661)
2010
14
A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature. (20830670)
2010
15
Ilizarov treatment for extreme bilateral genu recurvatum in a pseudoachondroplasia patient: a case report. (20306977)
2010
16
A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia. (19808781)
2010
17
Novel human pathological mutations. Gene symbol: COMP. Disease: pseudoachondroplasia. (19320037)
2009
18
Deformity correction with external fixator in pseudoachondroplasia. (16957646)
2007
19
Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family. (17579668)
2007
20
Retention of the matricellular protein SPARC in the endoplasmic reticulum of chondrocytes from patients with pseudoachondroplasia. (16286662)
2006
21
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia. (15756302)
2005
22
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. (15880723)
2005
23
Characterization of a pseudoachondroplasia-associated mutation (His587-->Arg) in the C-terminal, collagen-binding domain of cartilage oligomeric matrix protein (COMP). (14580238)
2004
24
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate. (15183431)
2004
25
Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. (11968079)
2002
26
A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia. (11745002)
2002
27
Pseudoachondroplasia with cerebral and renal cysts. (12150213)
2002
28
Selective intracellular retention of extracellular matrix proteins and chaperones associated with pseudoachondroplasia. (11691584)
2001
29
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. (11746045)
2001
30
A cartilage oligomeric matrix protein mutation associated with pseudoachondroplasia changes the structural and functional properties of the type 3 domain. (10753957)
2000
31
Bilateral total hip replacement in pseudoachondroplasia. (11103496)
2000
32
Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia. (10405447)
1999
33
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (9452026)
1998
34
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia. (9880218)
1998
35
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (9463320)
1998
36
Mosaicism in pseudoachondroplasia. (9188668)
1997
37
The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia. (9388247)
1997
38
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. (8702126)
1996
39
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. (7490089)
1995
40
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. (7670472)
1995
41
Linkage of typical pseudoachondroplasia to chromosome 19. (8307577)
1993
42
Pseudoachondroplasia (20301660)
1993
43
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia. (1442879)
1992
44
Pseudoachondroplasia with immune deficiency. (3263611)
1988
45
Severe pseudoachondroplasia with parental consanguinity. (3989835)
1985
46
Bilateral failure of the capital femoral epiphysis: bilateral Perthes disease, multiple epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal dysplasia congenita and tarda. (6409926)
1983
47
Pathogenesis of pseudoachondroplasia and diastrophic dysplasia. (6298815)
1982
48
Growth curves for height for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita, and pseudoachondroplasia. (6803579)
1982
49
The mild form of pseudoachondroplasia. Identity of the morphological and biochemical alterations of growth cartilage with those of typical pseudoachondroplasia. (7389735)
1980
50
Pseudoachondroplasia, a report of 13 cases. (871597)
1977

Variations for Pseudoachondroplasia

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UniProtKB/Swiss-Prot genetic disease variations for Pseudoachondroplasia:

69 (show all 30)
id Symbol AA change Variation ID SNP ID
1COMPp.Asp290AsnVAR_007614
2COMPp.Gly299ArgVAR_007615
3COMPp.Cys328ArgVAR_007616rs137852653
4COMPp.Asp349ValVAR_007618
5COMPp.Cys387GlyVAR_007625
6COMPp.Gly440GluVAR_007628
7COMPp.Gly440ArgVAR_007629
8COMPp.Cys468TyrVAR_007632rs137852651
9COMPp.Asp472TyrVAR_007634rs137852650
10COMPp.Asp473GlyVAR_007635rs28936669
11COMPp.Asp482GlyVAR_007637
12COMPp.Asp518AsnVAR_007639
13COMPp.Thr585MetVAR_007641rs312262900
14COMPp.Thr585ArgVAR_007642rs312262900
15COMPp.Cys348ArgVAR_017102rs137852656
16COMPp.Gly719AspVAR_017103rs137852655
17COMPp.Pro234SerVAR_066790rs557483957
18COMPp.Asp290GlyVAR_066791
19COMPp.Asp326TyrVAR_066796
20COMPp.Asp378ValVAR_066803
21COMPp.Cys387ArgVAR_066807
22COMPp.Asp446AsnVAR_066815
23COMPp.Cys448SerVAR_066816
24COMPp.Asp473HisVAR_066819
25COMPp.Asp475AsnVAR_066820
26COMPp.Asp507GlyVAR_066822
27COMPp.Asp511GlyVAR_066823
28COMPp.Asp515GlyVAR_066824
29COMPp.Thr529IleVAR_066825rs312262903
30COMPp.Gly719SerVAR_066828rs312262904

Clinvar genetic disease variations for Pseudoachondroplasia:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1COMPCOMP, 3-BP DEL, (GAC)2deletionPathogenicChr na, -1: -1
2COMPNM_000095.2(COMP): c.1417_1419delGAC (p.Asp473del)deletionPathogenicrs312262897GRCh37Chr 19, 18896845: 18896847
3COMPNM_000095.2(COMP): c.1586C> T (p.Thr529Ile)SNVPathogenicrs312262903GRCh37Chr 19, 18896565: 18896565
4COMPNM_000095.2: c.1679A> GSNVPathogenicChr na, -1: -1
5COMPNM_000095.2(COMP): c.1747G> A (p.Glu583Lys)SNVPathogenicrs312262899GRCh37Chr 19, 18895873: 18895873
6COMPNM_000095.2(COMP): c.1754C> A (p.Thr585Lys)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
7COMPNM_000095.2(COMP): c.1754C> G (p.Thr585Arg)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
8COMPNM_000095.2(COMP): c.1754C> T (p.Thr585Met)SNVPathogenicrs312262900GRCh37Chr 19, 18895866: 18895866
9COMPNM_000095.2(COMP): c.1760A> G (p.His587Arg)SNVPathogenicrs312262901GRCh37Chr 19, 18895860: 18895860
10COMPNM_000095.2(COMP): c.2155G> A (p.Gly719Ser)SNVPathogenicrs312262904GRCh37Chr 19, 18893936: 18893936
11COMPNM_000095.2(COMP): c.1414G> T (p.Asp472Tyr)SNVPathogenicrs137852650GRCh37Chr 19, 18896850: 18896850
12COMPNM_000095.2(COMP): c.1403G> A (p.Cys468Tyr)SNVPathogenicrs137852651GRCh37Chr 19, 18896861: 18896861
13COMPCOMP, 3-BP DEL, 459TCA, SER459DELdeletionPathogenicChr na, -1: -1
14COMPCOMP, 3-BP DEL, (GAC)4deletionPathogenicChr na, -1: -1
15COMPNM_000095.2(COMP): c.982T> C (p.Cys328Arg)SNVPathogenicrs137852653GRCh37Chr 19, 18898453: 18898453
16COMPNM_000095.2(COMP): c.1405_1407GAC[7] (p.Asp473_Asn474insAspAsp)NT expansionPathogenicGRCh37Chr 19, 18896845: 18896847
17COMPNM_000095.2(COMP): c.1417_1419dupGAC (p.Asp473_Asn474insAsp)duplicationPathogenicrs312262898GRCh37Chr 19, 18896845: 18896847
18COMPNM_000095.2(COMP): c.2156G> A (p.Gly719Asp)SNVPathogenicrs137852655GRCh37Chr 19, 18893935: 18893935
19COMPNM_000095.2(COMP): c.1042T> C (p.Cys348Arg)SNVPathogenicrs137852656GRCh37Chr 19, 18898393: 18898393
20COMPCOMP, EX9DELdeletionPathogenicChr na, -1: -1

Expression for genes affiliated with Pseudoachondroplasia

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Search GEO for disease gene expression data for Pseudoachondroplasia.

Pathways for genes affiliated with Pseudoachondroplasia

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GO Terms for genes affiliated with Pseudoachondroplasia

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Cellular components related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type IX trimerGO:00055949.6COL9A1, COL9A2, COL9A3
2lysosomal lumenGO:00432029.6ACAN, DCN
3Golgi lumenGO:00057969.5ACAN, DCN
4endoplasmic reticulum lumenGO:00057889.2COL9A1, COL9A2, COL9A3
5extracellular matrixGO:00310128.8ACAN, COMP, DCN
6extracellular regionGO:00055766.9ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN
7proteinaceous extracellular matrixGO:00055786.8ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Biological processes related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.4ACAN, DCN
2animal organ morphogenesisGO:00098879.1COL9A1, COMP, DCN
3skeletal system developmentGO:00015018.2ACAN, COL9A2, COMP, MATN3
4extracellular matrix organizationGO:00301986.9ACAN, COL9A1, COL9A2, COL9A3, COMP, DCN

Molecular functions related to Pseudoachondroplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.6COMP, DCN
2extracellular matrix structural constituent conferring tensile strengthGO:00300209.2COL9A1, COL9A2, COL9A3
3extracellular matrix structural constituentGO:00052019.1ACAN, COMP, MATN3

Sources for Pseudoachondroplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet